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Your search keyword '"Di Donato, Nataliya"' showing total 9 results

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9 results on '"Di Donato, Nataliya"'

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1. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

2. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

3. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

4. Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

5. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

6. De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

7. De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

8. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

9. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

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